Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		16 0 16 0.57 0 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		18 0 16 0.53 0 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		25 0 17 0.47 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 7 21 0.36 1 9.1E-02
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 16 0.34 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 0 16 0.29 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 12 0.24 2 0.12
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 0 9 0.20 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 0 7 0.17 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		7 0 5 0.17 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 0 4 0.12 0 0
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		8 0 4 0.12 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 4 0.12 0 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 3 4 0.12 1 0.14
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 0 5 0.12 0 0
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 0 6 0.12 0 0
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		16 0 4 1.0E-01 0 0
CUI: C4317152
Disease: Dimple chin
Dimple chin 		16 2 4 1.0E-01 1 0.17
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		17 0 4 9.8E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 19 9.7E-02 1 4.2E-02
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 0 3 9.7E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 10 9.3E-02 1 6.7E-02
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 3 8.6E-02 0 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		10 0 3 8.6E-02 0 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 6 8.6E-02 1 5.6E-02